ABSTRACT
OBJECTIVE: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. METHOD: We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin time, activated partial thromboplastin time and thrombin time tests, a platelet count, and a quantitative determination of factor XI. RESULTS: An abnormal laboratory result was observed in 9 patients (30 percent). Although coagulation-factor deficiencies, especially factor XI deficiency, were the most common hematological findings, we also observed abnormalities of platelet count and function in our screening. CONCLUSIONS: Hemostatic abnormalities are found with some frequency in Noonan syndrome patients (30 percent in our sample). Therefore, we emphasize the importance of a more extensive hematological investigation in these patients, especially prior to an invasive procedure, which is required with some frequency in this disorder
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Blood Coagulation Disorders , Noonan Syndrome/blood , Blood Coagulation , Factor XI Deficiency , Hematologic Tests , Hemorrhagic Disorders , Noonan Syndrome/complicationsABSTRACT
INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68 percent) - all typical cases. In 8 patients (32 percent) (6 atypical and 2 typical), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. DISCUSSION: Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion
Subject(s)
Humans , Male , Female , Friedreich Ataxia , Trinucleotide Repeat Expansion , Age of Onset , Genotype , PhenotypeABSTRACT
OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and echodopplercardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80 percent of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Cardiovascular Diseases/diagnosis , Noonan Syndrome/diagnosis , Cardiovascular Abnormalities/diagnosis , Cardiovascular Abnormalities/genetics , Echocardiography , Electrocardiography , Noonan Syndrome/genetics , Pulmonary Valve Stenosis/diagnosisABSTRACT
Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71 percent); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87 percent); cardiac anomalies (65 percent), and fetal pads in fingers and toes (70 percent). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Noonan Syndrome/complications , Noonan Syndrome/diagnosis , Noonan Syndrome/geneticsABSTRACT
Os autores apresentam quatro individuos com a anomalia de Pelger-Huet, em duas familias. Dois dos pacientes foram encaminhados para diagnostico de infeccao devido a interpretacao erronea de hemograma. Os outros dois eram parentes de um dos casos-indices. Os autores enfatizam a importancia do diagnostico da anomalia para nao se incorrer em condutas diagnosticas e terapeuticas desnecessarias